lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	1571
Symbol	CYP2E1
Synonymous	CPE1\|CYP2E\|P450-J\|P450C2E
Full name	cytochrome P450, family 2, subfamily E, polypeptide 1
Gene description	4-nitrophenol 2-hydroxylase\|CYPIIE1\|cytochrome P450 2E1\|cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1\|cytochrome P450-J\|flavoprotein-linked monooxygenase\|microsomal monooxygenase\|xenobiotic monooxygenase
Cytoband	10q26.3
Gene type	protein-coding
Synonymous	MIM:124040; HGNC:HGNC:2631; Ensembl:ENSG00000130649; HPRD:11813; Vega:OTTHUMG00000019322

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1015C>T; p.P339S; 10:133537110-133537110	skin	malignant_melanoma	Substitution - Missense
c.462G>A; p.L154L; 10:133531709-133531709	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1330C>T; p.R444C; 10:133538812-133538812	skin	malignant_melanoma	Substitution - Missense
c.257T>G; p.V86G; 10:133528560-133528560	thyroid	other; neoplasm	Substitution - Missense
c.861C>T; p.D287D; 10:133533791-133533791	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.867C>T; p.I289I; 10:133533797-133533797	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.663T>C; p.F221F; 10:133532706-133532706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.663T>C; p.F221F; 10:133532706-133532706	stomach	adenocarcinoma	Substitution - coding silent
c.898G>A; p.G300R; 10:133533828-133533828	skin	malignant_melanoma	Substitution - Missense
c.206C>G; p.T69R; 10:133528509-133528509	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.324G>A; p.A108A; 10:133528627-133528627	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.62C>T; p.S21F; 10:133527457-133527457	skin	malignant_melanoma	Substitution - Missense
c.1316G>T; p.G439V; 10:133538798-133538798	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.680A>G; p.Y227C; 10:133532723-133532723	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1145T>G; p.L382R; 10:133537240-133537240	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1023C>G; p.I341M; 10:133537118-133537118	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.792C>T; p.D264D; 10:133532835-133532835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.1319A>T; p.E440V; 10:133538801-133538801	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.760C>T; p.H254Y; 10:133532803-133532803	skin	malignant_melanoma	Substitution - Missense
c.638C>T; p.P213L; 10:133532274-133532274	skin	malignant_melanoma	Substitution - Missense
c.844C>T; p.R282C; 10:133533774-133533774	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1050G>A; p.M350I; 10:133537145-133537145	skin	malignant_melanoma	Substitution - Missense
c.1050G>A; p.M350I; 10:133537145-133537145	skin	malignant_melanoma	Substitution - Missense
c.584A>C; p.K195T; 10:133532220-133532220	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.435C>T; p.S145S; 10:133531682-133531682	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.882C>T; p.A294A; 10:133533812-133533812	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.126C>G; p.I42M; 10:133527521-133527521	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.386C>T; p.S129F; 10:133531633-133531633	skin	malignant_melanoma	Substitution - Missense
c.480G>T; p.K160N; 10:133531727-133531727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.726_727delAA; p.K243fs*5; 10:133532769-133532770	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.516C>T; p.I172I; 10:133532152-133532152	skin	malignant_melanoma	Substitution - coding silent
c.1408G>A; p.D470N; 10:133538890-133538890	pancreas	carcinoma	Substitution - Missense
c.1408G>A; p.D470N; 10:133538890-133538890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1408G>A; p.D470N; 10:133538890-133538890	pancreas	carcinoma	Substitution - Missense
c.557G>T; p.R186L; 10:133532193-133532193	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1052A>G; p.D351G; 10:133537147-133537147	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.19A>T; p.T7S; 10:133527414-133527414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.222G>T; p.S74S; 10:133528525-133528525	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.982G>T; p.E328*; 10:133537077-133537077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.982G>T; p.E328*; 10:133537077-133537077	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.338G>A; p.G113E; 10:133531585-133531585	skin	malignant_melanoma	Substitution - Missense
c.982G>T; p.E328*; 10:133537077-133537077	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.982G>T; p.E328*; 10:133537077-133537077	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1475G>A; p.R492H; 10:133538957-133538957	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.522C>T; p.C174C; 10:133532158-133532158	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.126C>T; p.I42I; 10:133527521-133527521	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.12C>T; p.L4L; 10:133527407-133527407	breast	carcinoma	Substitution - coding silent
c.129G>A; p.G43G; 10:133527524-133527524	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.129G>A; p.G43G; 10:133527524-133527524	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.94C>G; p.L32V; 10:133527489-133527489	breast	carcinoma	Substitution - Missense
c.736G>A; p.V246M; 10:133532779-133532779	kidney	other; neoplasm	Substitution - Missense
c.1076G>A; p.R359Q; 10:133537171-133537171	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.736G>A; p.V246M; 10:133532779-133532779	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.532A>C; p.N178H; 10:133532168-133532168	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1293C>T; p.S431S; 10:133537888-133537888	skin	malignant_melanoma	Substitution - coding silent
c.769C>G; p.L257V; 10:133532812-133532812	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.112C>T; p.P38S; 10:133527507-133527507	skin	malignant_melanoma	Substitution - Missense
c.1162G>C; p.V388L; 10:133537757-133537757	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.964G>A; p.E322K; 10:133533894-133533894	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1162G>C; p.V388L; 10:133537757-133537757	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.642G>A; p.W214*; 10:133532278-133532278	prostate	carcinoma	Substitution - Nonsense
c.959A>C; p.E320A; 10:133533889-133533889	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.193G>A; p.G65R; 10:133528496-133528496	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.213C>T; p.Y71Y; 10:133528516-133528516	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1298-7_1298-5delCTT; p.?; 10:133538773-133538775	liver	carcinoma	Unknown
c.517G>T; p.G173C; 10:133532153-133532153	kidney	other; neoplasm	Substitution - Missense
c.1134C>T; p.F378F; 10:133537229-133537229	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1408G>T; p.D470Y; 10:133538890-133538890	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1036G>C; p.E346Q; 10:133537131-133537131	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1027G>A; p.D343N; 10:133537122-133537122	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.99C>T; p.P33P; 10:133527494-133527494	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.550C>T; p.L184F; 10:133532186-133532186	skin	malignant_melanoma	Substitution - Missense
c.1439G>T; p.C480F; 10:133538921-133538921	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.399C>T; p.L133L; 10:133531646-133531646	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.730G>T; p.E244*; 10:133532773-133532773	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.390G>T; p.L130L; 10:133531637-133531637	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1396C>T; p.P466S; 10:133538878-133538878	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1055C>T; p.A352V; 10:133537150-133537150	skin	malignant_melanoma	Substitution - Missense
c.1010G>A; p.R337Q; 10:133537105-133537105	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.329_330GG>AA; p.R110>?; 10:133528632-133528633	NS	malignant_melanoma	Complex
c.859G>A; p.D287N; 10:133533789-133533789	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.436C>T; p.R146W; 10:133531683-133531683	skin	malignant_melanoma	Substitution - Missense
c.1165G>A; p.V389I; 10:133537760-133537760	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.790G>C; p.D264H; 10:133532833-133532833	kidney	other; neoplasm	Substitution - Missense
c.934C>T; p.L312F; 10:133533864-133533864	skin	malignant_melanoma	Substitution - Missense
c.909C>A; p.T303T; 10:133533839-133533839	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1150C>T; p.P384S; 10:133537245-133537245	prostate	carcinoma	Substitution - Missense
c.289T>C; p.F97L; 10:133528592-133528592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.58_59delGT; p.S21fs*96; 10:133527453-133527454	liver	carcinoma	Deletion - Frameshift
c.861C>A; p.D287E; 10:133533791-133533791	breast	carcinoma	Substitution - Missense
c.848T>A; p.L283*; 10:133533778-133533778	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.848T>A; p.L283*; 10:133533778-133533778	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1389C>T; p.L463L; 10:133538871-133538871	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.469G>A; p.A157T; 10:133531716-133531716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1089C>T; p.L363L; 10:133537184-133537184	bone; femur	chondrosarcoma	Substitution - coding silent
c.1089C>T; p.L363L; 10:133537184-133537184	skin	malignant_melanoma	Substitution - coding silent
c.1026G>A; p.K342K; 10:133537121-133537121	skin	malignant_melanoma	Substitution - coding silent
c.204C>T; p.F68F; 10:133528507-133528507	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.845G>A; p.R282H; 10:133533775-133533775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>A; p.A240T; 10:133532761-133532761	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1345C>A; p.L449I; 10:133538827-133538827	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1156-1G>T; p.?; 10:133537750-133537750	lung	carcinoma; adenocarcinoma	Unknown
c.41C>T; p.A14V; 10:133527436-133527436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244G>T; p.G82C; 10:133528547-133528547	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1390G>A; p.V464I; 10:133538872-133538872	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.549C>G; p.I183M; 10:133532185-133532185	thyroid	carcinoma	Substitution - Missense
c.51C>T; p.L17L; 10:133527446-133527446	skin	malignant_melanoma	Substitution - coding silent
c.370G>A; p.D124N; 10:133531617-133531617	skin	malignant_melanoma	Substitution - Missense
c.1474C>T; p.R492C; 10:133538956-133538956	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.622C>T; p.H208Y; 10:133532258-133532258	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.945C>T; p.L315L; 10:133533875-133533875	skin	malignant_melanoma	Substitution - coding silent
c.494C>T; p.P165L; 10:133532130-133532130	skin	malignant_melanoma	Substitution - Missense
c.669C>A; p.S223R; 10:133532712-133532712	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1440T>C; p.C480C; 10:133538922-133538922	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1102C>A; p.L368M; 10:133537197-133537197	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1015C>A; p.P339T; 10:133537110-133537110	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.376C>T; p.R126W; 10:133531623-133531623	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.42G>A; p.A14A; 10:133527437-133527437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation